埃及蚕豆病患者中地中海突变的鉴定。

Identification of Mediterranean mutation in Egyptian favism patients.

作者信息

Osman H G, Zahran F M, El-Sokkary A M A, El-Said A, Sabry A M

机构信息

Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, Egypt.

出版信息

Eur Rev Med Pharmacol Sci. 2014 Oct;18(19):2821-7.

PMID:25339475

Abstract

OBJECTIVES

Identify and screen the G6PD Mediterranean mutation in favism patients by applying a Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR).

PATIENTS AND METHODS

A total of 114 unrelated Egyptians patients were included in the present study; their ages ranged between (2-9) years with male to female ratio 4.5:1. G6PD activity was determined qualitatively from red cell hemolysate during attack. The G6PD Mediterranean mutation in patients has been identified by ARMS-PCR.

RESULTS

G6PD deficiency was detected in 87.7%, (n=100). The frequency of G6PD Mediterranean mutation was (94.7%), (n=108). The association between G6PD deficiency and Mediterranean mutation was a highly significant.

CONCLUSIONS

Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most common mutations causing G6PD deficiency among Egyptian children with favism.

摘要